Tics in Wilson’s Disease and Review of the Literature
Objective: We report a case with tics in a patient with Wilson’s Disease (WD). Background: Wilson’s disease is a genetic disorder of copper metabolism, leading…Loss of paraplegin drives spasticity rather than ataxia in SPG7: A European cohort analysis of 238 patients
Objective: The aim of this work was to delineate the clinical phenotype of SPG7 patients, integrating genetic data and follow-up examinations, taking advantage of a…Cerebellar Ataxia as a Manifestation of Hashimoto Encephalopathy
Objective: To characterize the clinical, laboratory and radiologic findings as well as prognosis of Hashimoto encephalopathy (HE) presenting with cerebellar ataxia Background: HE is a…Treatment with docosahexaenoic acid in Spinocerebellar Ataxia 38
Objective: To evaluate the safety and efficacy of docosahexaenoic acid supplementation in patients with spinocerebellar ataxia 38 (SCA 38), on clinical symptoms and changes of…Generalized chorea in a patient with isolated leukocytosis and JAK2V617F mutation: A case report
Objective: To describe late-onset generalized chorea in a patient found to have the JAK2V617F mutation without polycythemia vera. Background: Polycythemia vera (PV) is well-known to…Acute concomitant presentation of chorea and subacute combined degeneration secondary to vitamin B12 deficiency
Objective: To describe an exceptional presentation of vitamin B12 deficiency. Background: Vitamin B12 deficiency typically presents with subacute combined degeneration (SCD). Extrapyramidal symptoms are rare,…Disease Modeling of DYT1 Using Patient Induced Pluripotent Stem Cells
Objective: To create a resource of induced pluripotent stem cells (iPSCs) as models for exploring mechanisms of pathogenesis in DYT1 dystonia. Background: DYT1 an autosomal…How much does botulinum toxin injection interval impact upon patient satisfaction in the routine treatment of cervical dystonia?
Objective: Evaluate the impact of injection interval on satisfaction with botulinum toxin-A (BoNT-A) treatment in cervical dystonia (CD) patients who have been treated for 1…“Stiff Young Woman”: Case report
Objective: To describe a rare presentation of a young-onset Stiff Person Syndrome patient. Background: The Stiff-Person syndrome (SPS) is classically characterized by progressive stiffness with…Gamma Knife Radiosurgery for Generalised Dystonia: Is It The Last Part in The Ship of Theseus
Objective: To evaluate the role of radiosurgical thalamotomy in cases of medically refractory generalised dystonia in current era. Background: Gamma knife radiosurgery has been proved…
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